Comparing endophenotypes in adult-onset primary torsion dystonia.
AffiliationDepartment of Neurology, St. Vincent's University Hospital, Dublin 4, Ireland., firstname.lastname@example.org
Diffusion Magnetic Resonance Imaging/methods
Dystonic Disorders/genetics/*physiopathology/radionuclide imaging
Transcranial Magnetic Stimulation/methods
MetadataShow full item record
CitationMov Disord. 2010 Jan 15;25(1):84-90.
JournalMovement disorders : official journal of the Movement Disorder Society
AbstractAdult-onset primary torsion dystonia (AOPTD) has an autosomal dominant pattern of inheritance with markedly reduced penetrance; the genetic causes of most forms of AOPTD remain unknown. Endophenotypes, markers of sub-clinical gene carriage, may be of use detecting non-manifesting gene carriers in relatives of AOPTD patients. The aim of this study was to compare the utility of the spatial discrimination threshold (SDT) and temporal discrimination threshold (TDT) as potential endophenotypes in AOPTD. Data on other published candidate endophenotypes are also considered. Both SDT and TDT testing were performed in 24 AOPTD patients and 34 of their unaffected first degree relatives; results were compared with normal values from a control population. Of the 24 AOPTD patients 5 (21%) had abnormal SDTs and 20 (83%) had abnormal TDTs. Of the 34 first degree relatives 17 (50%) had abnormal SDTs and 14 (41%) had abnormal TDTs. Discordant results on SDT and TDT testing were found in 16 (67%) AOPTD patients and 21 (62%) first degree relatives. TDT testing has superior sensitivity compared to SDT testing in AOPTD patients; although false positive TDTs are recognised, the specificity of TDT testing in unaffected relatives is not determinable. The high level of discordance between the two tests probably relates methodological difficulties with SDT testing. The SDT is an unreliable AOPTD endophenotype; TDT testing fulfils criteria for a reliable endophenotype with a high sensitivity.
- Temporal discrimination threshold: VBM evidence for an endophenotype in adult onset primary torsion dystonia.
- Authors: Bradley D, Whelan R, Walsh R, Reilly RB, Hutchinson S, Molloy F, Hutchinson M
- Issue date: 2009 Sep
- Sporadic adult onset dystonia: sensory abnormalities as an endophenotype in unaffected relatives.
- Authors: Walsh R, O'Dwyer JP, Sheikh IH, O'Riordan S, Lynch T, Hutchinson M
- Issue date: 2007 Sep
- Temporal discrimination thresholds in adult-onset primary torsion dystonia: an analysis by task type and by dystonia phenotype.
- Authors: Bradley D, Whelan R, Kimmich O, O'Riordan S, Mulrooney N, Brady P, Walsh R, Reilly RB, Hutchinson S, Molloy F, Hutchinson M
- Issue date: 2012 Jan
- Temporal discrimination, a cervical dystonia endophenotype: penetrance and functional correlates.
- Authors: Kimmich O, Molloy A, Whelan R, Williams L, Bradley D, Balsters J, Molloy F, Lynch T, Healy DG, Walsh C, O'Riordan S, Reilly RB, Hutchinson M
- Issue date: 2014 May
- Striatal morphology correlates with sensory abnormalities in unaffected relatives of cervical dystonia patients.
- Authors: Walsh RA, Whelan R, O'Dwyer J, O'Riordan S, Hutchinson S, O'Laoide R, Malone K, Reilly R, Hutchinson M
- Issue date: 2009 Aug